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Updated: Mar 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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同时存在的Charcot-Marie-Tooth疾病II型和帕金森病与新型DNAjB2致病变体相关

Alexandru N Lerint1, Johanna S Canenguez Benitez1, Vijaya Lakshmi Valaparla1

  • 1Department of Neurology, University of Texas Medical Branch, Galveston, TX, USA.

Journal of central nervous system disease
|March 9, 2026
PubMed
概括

这项研究报告了Charcot-Marie-Tooth疾病2型 (CMT2) 和帕金森病 (PD) 的第一个病例,该病例发生在DNAjB2基因中具有复合异构变异的患者身上. 这一发现突显了DNAjB2在外周和中枢神经系统健康中的关键作用.

关键词:
在DNAjB2基因中.复合异合体变异的变种.双重的现象类型.家庭性帕金森病的发生.遗传性神经病变是一种遗传性神经病变.

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